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1.
Article in English | LILACS-Express | LILACS | ID: biblio-1521606

ABSTRACT

ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0-15.6 years) and median age at diagnosis 6.9 years (0-21.9 years); 111 (73%) were children (0-9 years old), and 41 (27%) were adolescents and young adults (AYA) (10-21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.


RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0-15,6 anos) e a média de idade de diagnóstico 6,9 anos (0-21,9 anos); 111 (73%) eram crianças (0-9 anos) e 41 (27%) adolescentes/adultos jovens (10-21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença.

2.
Adv Rheumatol ; 64: 29, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1556790

ABSTRACT

Abstract Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

3.
Med. infant ; 30(2): 191-197, Junio 2023. ilus
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443762

ABSTRACT

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)


Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Autoimmune Diseases/diagnosis , Therapeutics/instrumentation , Polymerase Chain Reaction/methods , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , High-Throughput Nucleotide Sequencing , Laboratories, Hospital
4.
Rev. argent. dermatol ; 104: 21-30, ene. 2023. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1529610

ABSTRACT

Resumen La hidradenitis supurativa (HS) es una enfermedad dolorosa y crónica, que afecta en especial la unidad folículo-pilosebácea de la piel ubicada en ingle, axilas, región perianal, perineo, genitales y submamaria,regiones anatómicas donde se encuentran glándulas sudoríparas apocrinas. El curso clínico de la HS es heterogéneo pues varía desde formas muy graves con abscesos fluctuantes profundos y drenajes eventuales; concicatricesresiduales graves, hasta otra forma de enfermedad comparativamente leve caracterizada por la aparición de algunos nódulos inflamatorios,pústulas ypápulas,de manera recidivante. Comunicamos el caso de un niño de 12 añosde edad, con diagnóstico de hidradenitis supurativa,quien fue tratado con Adalimumab. Realizamos la revisión del estado de arte de esta patología, describimos sus características clínicas, criterios diagnósticos, diagnósticos diferenciales y los posibles tratamientos. Nuestra presentación, tiene por objeto relatar nuestra experiencia en el seguimiento del caso del paciente, y las vicisitudes diagnósticas al respecto, que variaron desde acné inflamatorio grave hasta finalmente arribar al diagnóstico de certeza de hidradenitis supurativa, basándonos en criterios clínicos y ecográficos.Consideramos de interés haber podido emplear el "agente biológico" inhibidordel factor de necrosis tumoral (FNT) que hemos mencionado, con excelente respuesta.


Abstract Hidradenitis suppurativa (HS) is a painful and chronic disease that particularlyaffects the follicle-pilosebaceous unit of the skin located in the groins, armpits, perianal region, perineum, genitals, and submammary glands, which areanatomical regions whereapocrine sweat glands are found. The clinical course of HS is heterogeneous as it varies from very severe forms with deep fluctuating abscesses and eventual drainage; with severe residual scars, to another form ofacomparatively mild condition characterized by the presence of some recurrent inflammatory nodules, pustules and papules as well. We report the case of a 12-year-old boy, diagnosed with hidradenitis suppurativa, who was treated with Adalimumab. We reviewed the state of the art of this pathology, described its clinical characteristics, diagnostic criteria, differential diagnoses and carried out possible treatments. The purpose of our presentation is to report our experience in monitoring the patient's case, along with the diagnostic vicissitudes in this regard, which ranged from severe inflammatory acne to finally arriving at a certain diagnosis of hidradenitis suppurativa, based on clinical and ultrasound criteria. We consider of interest the possibility of having been able to use the "biological agent" inhibitor of the tumor necrosis factor (TNF) that we have mentioned, with an excellent response.

5.
Adv Rheumatol ; 63: 23, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1447160

ABSTRACT

Abstract Introduction The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil. Patients and methods This is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, São Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected. Results Eighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of São Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses. Conclusion The low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary (t).

6.
Acta Pharmaceutica Sinica ; (12): 899-908, 2023.
Article in Chinese | WPRIM | ID: wpr-978773

ABSTRACT

Nucleotide-binding oligomerization domain containing protein 2 (NOD2) is a member of intracellular pattern recognition receptor. After being activated, it will induce the release of inflammatory factors through a series of signal cascade transduction, thus playing an important role in the innate immune response. The abnormal NOD2 signaling pathway is involved in the occurrence and development of many diseases, especially the single nucleotide polymorphisms (SNPs) of the NOD2 gene have been identified to be closely associated with autoinflammatory diseases (AIDs). Therefore, inhibitors targeting NOD2 pathway have great potential in the treatment of inflammatory immune diseases. This review presents the recent progress of NOD2 receptor-mediated signal transduction pathways and its regulation mechanisms, the relationship between NOD2 and AIDs, and the inhibitors of NOD2 pathway.

7.
Chinese Journal of Internal Medicine ; (12): 23-30, 2023.
Article in Chinese | WPRIM | ID: wpr-994384

ABSTRACT

Hemophagocytic syndrome (HPS), which is currently named as hemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory syndrome characterized by persistent fever, hepatosplenomegaly, pancytopenia and hemophagocytosis found in bone marrow, liver, spleen and lymph nodes due to excessive activation of macrophages and cytotoxic T cells. Macrophage activation syndrome (MAS) is a specific form of HLH induced by autoinflammatory/autoimmune disorders which can be life-threatening and requires multiple disciplines. In order to improve clinicians′ understanding of MAS and standardize the clinical diagnosis and treatment practice of MAS, the rheumatology branch of Chinese Rheumatology Association organized domestic experts to formulate the diagnosis and treatment standard, in order to improve the diagnosis and treatment level of MAS and improve the prognosis of patients.

8.
Article in English | LILACS-Express | LILACS | ID: biblio-1387500

ABSTRACT

ABSTRACT Objective: To describe clinical, diagnostic and therapeutic characteristics of the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. Data source: Literature review in the PubMed database by using specific descriptors to identify all articles published in the English language in the last three years; 38 articles were found. After performing selection of titles and abstract analysis, 13 out of the 38 articles were fully read. Relevant studies found in the references of the reviewed articles were also included. Data synthesis: The PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis and cervical Adenitis) is a medical condition grouped among the periodic fever syndromes. The etiology is uncertain, but possibly multifactorial, and its symptoms are accompanied by recurrent febrile episodes although weight and height development are preserved. It is a self-limiting disease of benign course with remission of two to three years without significant interference in the patient's overall development. Treatment consists of three pillars: interruption of febrile episodes, increase in the interval between episodes, and remission. Conclusions: Despite several attempts to establish more sensitive and specific criteria, the diagnosis of PFAPA syndrome is still clinical and reached by exclusion, based on the modified Marshall's criteria. The most common pharmacological options for treatment include prednisolone and betamethasone; colchicine may be used as prophylaxis, and surgical treatment with tonsillectomy can be considered in selected cases.


RESUMO Objetivo: Descrever as características clínicas, diagnósticas e de tratamento da síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA). Fontes de dados: Revisão de literatura na base de dados PubMed, feita por meio de descritores específicos para identificar todos os artigos publicados em língua inglesa nos últimos três anos. Dos 38 artigos encontrados, foram encaminhados para leitura integral 13 publicações após seleção de títulos e análise de abstract. Estudos relevantes encontrados nas referências dos artigos revisados também foram incluídos. Síntese dos dados: A PFAPA é traduzida do inglês periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Caracterizada por etiologia ainda incerta e possivelmente multifatorial, seus sintomas são acompanhados por episódios recorrentes de febre associados a um desenvolvimento pôndero-estatural preservado. É uma doença autolimitada de curso benigno, com remissão em dois a três anos, sem interferências significativas no desenvolvimento do paciente pediátrico. O tratamento consiste em três pilares: interrupção da crise febril, aumento do intervalo entre crises e remissão. Conclusões: Apesar de várias tentativas de estabelecer critérios atuais mais sensíveis e específicos, o diagnóstico da síndrome PFAPA ainda é clínico e de exclusão com base nos critérios de Marshall modificados. As opções farmacológicas mais utilizadas para o tratamento são a prednisolona e betametasona; colchicina pode ser utilizada como profilaxia e o tratamento cirúrgico com tonsilectomia pode ser considerado em casos selecionados.

9.
Chinese Journal of Applied Clinical Pediatrics ; (24): 2-5, 2022.
Article in Chinese | WPRIM | ID: wpr-930358

ABSTRACT

Type Ⅰ interferonopathies is a relatively new group of diseases in the last decade, which belong to auto-inflammatory disorders characterized by robust inflammation.Its low incidence and diverse clinical manifestations make it difficult for the clinical identification and diagnosis of this disease.In this article, the concept, pathogenesis, diagnosis and treatment options of this disease was introduced briefly, in order to enhance clinicians′ knowledge of them, thus achieving the goal of early recognition, early detection, early identification and early intervention for the benefit of more patients and their families.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1268-1272, 2022.
Article in Chinese | WPRIM | ID: wpr-954722

ABSTRACT

The Nod-like receptor family pyrin domain-containing protein 12(NLRP12), a newly discovered member of the Nod-like receptor family, is one of the important pattern recognition receptors.It recognizes a variety of pathogens, initiates downstream immune responses, and participates in the regulation of multiple inflammatory responses.NLRP12 is related to the occurrence and progression of inflammatory diseases.In this review, the structure and function of NLRP12 as well as NLRP12-associated autoinflammatory diseases were discussed, so as to provide new insights for the understanding, exploration and treatment of NLRP12-associated autoinflammatory diseases.

11.
JOURNAL OF RARE DISEASES ; (4): 296-303, 2022.
Article in English | WPRIM | ID: wpr-1005018

ABSTRACT

@#Autoinflammatory diseases(AIDs) are a group of diseases caused by gene mutations that change coding proteins, leading to the imbalance of innate immune system and leads to systemic inflammatory response. This group of diseases is characterized by repeated or continuous inflammatory response(increased acute phase inflammatory protein) and lack of synergy of the adaptive immune system(lack of autoreactive T cells and autoantibodies). AIDs have a wide variety of clinical manifestations and pathogenesis. They can be divided into different types according to clinical characteristics and pathogenesis. For patients with a young onset age, the possibility of AIDs should be considered if manifestations of recurrent fever in addition to other systemic inflammatory manifestations are seen, along with family history. It is clear that the diagnosis depends on the comprehensive analysis of medical history, clinical manifestations and gene test results. Drugs for the treatment of AIDs include non-steroidal anti-inflammatory drugs, glucocorticoids, immunosuppressants and biological agents. Early diagnosis and active treatment of AIDs can effectively reduce systemic inflammation, alleviate organ injury and reduce the incidence of long-term complications. In order to standardize the diagnosis and treatment of AIDs, the Subspecialty Group of Rheumatology, the Society of Pediatrics, Chinese Medical Association specially formulated the experts consensus on the diagnosis and treatment of AIDs.

12.
JOURNAL OF RARE DISEASES ; (4): 289-295, 2022.
Article in English | WPRIM | ID: wpr-1005017

ABSTRACT

A 15-year-old female was referred to the hospital with intermittent fever, where multiple systemic abnormalities were found, such as splenomegaly, secondary hypersplenism, retinitis pigmentosa, and ectodermal dysplasia. Medical history revealed that she had suffered recurrent respiratory infections, blurred vision at night, and dysplasia of teeth and nail beds since childhood. Then she was suspected to be experiencing ROSAH syndrome, a rare disease newly recognized in recent years, which was finally confirmed by gene sequencing results. During a course of treatment with tumor necrosis factor inhibitors, recurrent fever with elevated inflammatory markers reappeared, and the child developed headaches. To guide the comprehensive treatment and improve the patient's quality of life, the multidisciplinary team in Peking Union Medical College Hospital discussed together and directed the following treatment.

13.
JOURNAL OF RARE DISEASES ; (4): 238-244, 2022.
Article in English | WPRIM | ID: wpr-1005010

ABSTRACT

Autoinflammatory diseases (AIDs) are a group of genetic disorders characterized by generalized inflammatory responses and multiorgan involvement primarily caused by dysregulated innate immunity. Since the introduction of this concept, AIDs has been a rapidly advancing research field including at least 56 diseases, deepening the understanding of the interaction between innate and adaptive immunity. Despite distinct features displayed by AIDs of different categories, genetic testing remains essential for highly suspected cases. The diagnosis of undifferentiated systemic autoinflammatory diseases, omics-powered precision stratification and targeted therapy for AIDs are promising research areas in the future. This article introduces the rapid progresses in AIDs concept, mechanism, and classification. We present a summary of the characteristic clinical phenotype, as well as the current diagnostic challenges and treatment experiences, in the hope of raising the awareness of these disorders.

14.
JOURNAL OF RARE DISEASES ; (4): 151-157, 2022.
Article in English | WPRIM | ID: wpr-1004996

ABSTRACT

We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.

15.
Arq. Asma, Alerg. Imunol ; 5(3): 246-254, jul.set.2021. ilus
Article in Portuguese | LILACS | ID: biblio-1399343

ABSTRACT

As síndromes autoinflamatórias associadas à criopirina (CAPS) compreendem um grupo espectral de doenças raras autoinflamatórias. Todas estas doenças estão relacionadas ao inflamassoma NLRP3, sendo que de 50-60% dos pacientes apresentam mutações ao longo do gene NLRP3. Clinicamente, febre recorrente associada à urticária neutrofílica e outros sintomas sistêmicos são o grande marco clínico, comum a todo o espectro. O bloqueio da interleucina-1 trouxe grande alívio ao tratamento destas desordens, mas variações na resposta clínica podem ser observadas, principalmente nos espectros mais graves. Neste trabalho os autores trazem uma revisão do estado da arte das doenças autoinflamatórias CAPS. Foi realizado levantamento de literatura e, ao final, 49 artigos restaram como base para construção do texto final. O trabalho traz de forma narrativa os principais pontos relacionados a imunofisiopatologia, manifestação clínica, diagnóstico, tratamento, complicações e novas armas diagnósticas, e terapia gênica.


Cryopyrin-associated periodic syndromes (CAPS) comprise a spectrum of rare autoinflammatory disorders. They are all related to the NLRP3 inflammasome, and 50-60% of the patients harbor mutations along the NLRP3 gene. Clinically, recurrent fever associated with neutrophilic urticaria and other systemic symptoms are a hallmark of all the disorders in the spectrum. Biologic drugs that can block interleukin-1 were a milestone for the treatment of such rare diseases, although variability in clinical response to this therapeutic intervention were observed, especially in those affected by severe phenotypes. In this paper, the authors provide a state-of-the-art review of CAPS. A literature search was performed and, finally, 49 articles remained for the construction of the final manuscript. The article presents a narrative review focused on the topics related to immune pathophysiology, clinical manifestations, diagnosis, treatment, complications and new therapeutic options, and gene therapy.


Subject(s)
Humans , Genetic Therapy , Rare Diseases , Cryopyrin-Associated Periodic Syndromes , Patients , Phenotype , Relapsing Fever , Signs and Symptoms , Therapeutics , Urticaria , Biological Products , Interleukin-1 , PubMed , Diagnosis
16.
Arq. Asma, Alerg. Imunol ; 5(1): 51-55, jan.mar.2021. ilus
Article in Portuguese | LILACS | ID: biblio-1398413

ABSTRACT

As síndromes autoinflamatórias são doenças raras, genéticas de envolvimento prioritário da imunidade inata. Avanços nas técnicas de sequenciamento genético permitiram dissecar os genes envolvidos nestas doenças, continuamente organizando o quebra-cabeça genético e fisiopatológico de tais desordens. Este artigo revisa os últimos achados genéticos com seus respectivos fenótipos, código OMIM e ORPHA. Além disso, sugere cautela na triagem clínica e na indicação de métodos restritivos de sequenciamentos genéticos.


Autoinflammatory diseases comprise a group of rare, genetic disorders with priority involvement of innate immunity. Advances in genetic sequencing techniques allowed genetic dissection of genes involved in these diseases, with continuous organization of the genetic and pathophysiologic puzzle of these disorders. This article reviews the most recent genetic findings linked to respective phenotypes and OMIM and ORPHA codes. Moreover, it suggests caution in clinical screening and genetic sequencing indication with restrictive genetic panels.


Subject(s)
Humans , Hereditary Autoinflammatory Diseases , Genetic Diseases, Inborn , Immunity, Innate , Mass Screening , Triage , Databases, Genetic , Rare Diseases
17.
Arq. Asma, Alerg. Imunol ; 5(1): 79-84, jan.mar.2021. ilus
Article in Portuguese | LILACS | ID: biblio-1398416

ABSTRACT

Introdução: O novo coronavírus causou uma pandemia e desafio na saúde pública em todo o mundo. Até hoje muitos mecanismos do vírus no hospedeiro foram desvendados, cujo conhecimento é essencial para entender a evolução clínica e desenvolver uma estratégia de terapia adequada para a infecção com COVID-19. Contudo, pouco se sabe da infecção por COVID-19 em pacientes com erros inatos da imunidade (EII), principalmente em pacientes com síndromes autoinflamatórias. Objetivo: Descrever a evolução de pacientes com erros inatos da imunidade acometidos por SARS-CoV-2 em um centro de referência em doenças raras e da imunidade no Brasil. Material e métodos: Foram analisados retrospectivamente dados clínicos, radiológicos, patológicos e laboratoriais de pacientes com erros inatos da imunidade infectados por SARS-CoV-2 de março a dezembro de 2020. Resultados: Ao total, dados de 13 pacientes com diversos EII foram coletados para descrever tanto a evolução da doença quanto para buscar mais conhecimento sobre o tratamento desses pacientes. Em nenhum paciente a síndrome da angústia respiratória aguda foi observada, e também não foi observado nenhum óbito. A grande maioria dos pacientes teve evolução com síndrome gripal. Observou-se, em um paciente com CAPS-NLRP3, rash cutâneo vasculítico responsivo ao uso de anti-IL1. Conclusão: Neste pequeno grupo de pacientes com erros inatos da imunidade e com infecção por SARS-CoV-2, o risco de fatalidade foi menor do que observado na literatura. Especialmente, o fato de que a maioria apresenta maior predisposição a inflamação do que infecção deve ser levada em conta na análise dos dados finais. Reportamos pela primeira vez a presença de urticária vasculítica em paciente com CAPS, que habitualmente apresentam-se com urticária neutrofílica. Tal achado ressalta a capacidade de injúria vascular do vírus, mesmo em indivíduos predispostos geneticamente.


Introduction: The pandemic caused by the new coronavirus has become a global public health challenge. To date, many pathophysiological mechanisms of the virus have been explained, which is essential to understand clinical evolution and to develop appropriate therapeutic strategies for patients with COVID-19. However, less is known about COVID-19 in patients with inborn errors of immunity (IEI), especially in those with autoinflammatory disorders. Objective: To report the natural evolution of a group of patients with IEI infected with SARS-CoV-2 treated at a center of excellence in rare diseases and immunity in Brazil. Material and methods: Clinical, radiological, pathological, and laboratory data of patients treated from March to December 2020 were retrospectively retrieved and analyzed. Results: Data of 13 patients with IEI were collected to describe the natural course of the infection with SARS-CoV-2 and to enhance understanding of treatment for these patients. Neither acute respiratory distress syndrome nor death were observed. The vast majority of patients had flu-like symptoms. Urticarial vasculitis was observed in one patient with CAPS-NLRP3 responsive to the use of anti-IL1. Conclusion: In this small group of patients with IEI and SARSCoV- 2 infection, fatality risk was lower than that observed in the literature. Importantly, the fact that our group is composed mainly of patients with predisposition to inflammation instead of infection should be taken into account for final data analysis. Furthermore, we observed for the first time the presence of urticarial vasculitis in a patient with CAPS, which is usually characterized by neutrophilic urticaria. Such finding reinforces the virus ability to cause vascular injury, even in individuals with a genetic predisposition.


Subject(s)
Humans , Genetic Predisposition to Disease , SARS-CoV-2 , COVID-19 , Immunity , Patients , Respiratory Distress Syndrome, Newborn , Therapeutics , Urticaria , Vasculitis , Clinical Evolution , Retrospective Studies , Health Strategies , Coronavirus , Rare Diseases , Infections
18.
Chinese Journal of Internal Medicine ; (12): 1129-1138, 2021.
Article in Chinese | WPRIM | ID: wpr-911466

ABSTRACT

Autoinflammatory diseases (AIDs) are a group of disorders characterized by dysfunction of innate immunity which caused by gene mutations leading to coded proteins changes, finally causing uncontrolled systemic inflammation. AIDs are a group of rare rheumatic and inflammatory diseases. Here, Chinese Rheumatology Association summarized manifestations of the main AIDs, and to standardize the methods for diagnosis of AIDs.

19.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1354-1357, 2021.
Article in Chinese | WPRIM | ID: wpr-907968

ABSTRACT

In addition to the pyogenic arthritis, pyoderma gangrenosum and acne(PAPA) syndrome, autoinflammatory diseases caused by mutations in the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene also include a group of clinical syndromes such as PSTPIP1-associated myeloid-related proteinemia inflammatory(PAMI) and pyoderma gangrenosum, acne, and hidradenitis suppurativa(PASH) syndrome.In this paper, the expanded spectrum and clinical characteristics of PSTPIP1 related autoinflammatory diseases were reviewed, so as to deepen clinicians′ understanding of this disease, facilitate early diagnosis, and finally improve the prognosis of patients.

20.
Arq. Asma, Alerg. Imunol ; 4(3): 325-331, jul.set.2020. ilus
Article in Portuguese | LILACS | ID: biblio-1382003

ABSTRACT

A deficiência de mevalonato quinase (MVK; MIM #142680; ORPHA #343) é uma doença genética, espectral, rara, associadas a mutações ao longo do gene MVK causando distúrbios na síntese do colesterol, que culminam em: inflamação sistêmica com febre, adenopatia, sintomas abdominais e outros achados clínicos. Enquanto no polo leve da doença os achados mais comuns são febres recorrentes com linfadenopatia, no polo mais grave adiciona-se o acometimento do sistema nervoso central (meningites assépticas, vasculites e atraso do desenvolvimento neuropsicomotor) e do sistema hematopoiético (síndrome de ativação macrofágica). Apesar de inúmeras terapêuticas, os bloqueadores da interleucina-1 ainda são os únicos medicamentos capazes de controlar a doença e de impedir a evolução para amiloidose. Os estudos atuais visam tentar novos tratamentos, como o transplante de células-tronco hematopoiéticas, ou mesmo a terapia gênica.


Mevalonate kinase deficiency (MVK; MIM #142680; ORPHA #343) is a rare spectral genetic disorder linked to mutations along the MVK gene leading to impaired cholesterol synthesis, clinically observed as systemic inflammation with fever, adenopathy, abdominal manifestations, and other clinical findings. While on mild forms recurrent fever with lymphadenopathy is commonly observed, severe forms add to that neurological (aseptic meningitis, vasculitis, and neuropsychomotor developmental delay) and hematopoietic involvement (macrophage activation syndrome). Despite of several therapeutic approaches, blocking interleukin-1 is the only effective method to control the disease and prevent the development of systemic amyloidosis. Ongoing studies aim to test new treatments, such as hematopoietic stem cell transplantation and gene therapy.


Subject(s)
Humans , Immunoglobulin D , Homeopathic Therapeutic Approaches , Mevalonate Kinase Deficiency , Signs and Symptoms , Therapeutics , Vasculitis , Genetic Therapy , Central Nervous System , Interleukin-1 , Hematopoietic Stem Cell Transplantation , PubMed , Fever , Lymphadenopathy , Hematopoietic System , Genetic Diseases, Inborn , Amyloidosis , Inflammation , Meningitis, Aseptic
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